Jordan Lerner‐Ellis
A5036580368- Genomics and Rare Diseases
- BRCA gene mutations in cancer
- Genetic factors in colorectal cancer
- Cancer Genomics and Diagnostics
- Genomic variations and chromosomal abnormalities
- Ethics in Clinical Research
- SARS-CoV-2 and COVID-19 Research
- Folate and B Vitamins Research
- COVID-19 Clinical Research Studies
- Metabolism and Genetic Disorders
- Nutrition, Genetics, and Disease
- Porphyrin Metabolism and Disorders
- CRISPR and Genetic Engineering
- Health Systems, Economic Evaluations, Quality of Life
- DNA Repair Mechanisms
- Biomedical Text Mining and Ontologies
- PARP inhibition in cancer therapy
- Endometrial and Cervical Cancer Treatments
- RNA modifications and cancer
- SARS-CoV-2 detection and testing
- Colorectal Cancer Screening and Detection
- Biomedical Ethics and Regulation
- Ovarian cancer diagnosis and treatment
- Genetics and Neurodevelopmental Disorders
- Genetic Associations and Epidemiology
University of Toronto
2016-2025
Sinai Health System
2017-2025
Mount Sinai Hospital
2015-2024
Lunenfeld-Tanenbaum Research Institute
2017-2024
Boston Children's Hospital
2019-2024
Sinai Hospital
2019-2024
Mount Sinai Hospital
2022-2023
Sinai Health System
2023
Unity Health Toronto
2023
St. Michael's Hospital
2023
Genetic variants that cause rare disorders may remain elusive even after expansive testing, such as exome sequencing. The diagnostic yield of genome sequencing, particularly a negative evaluation, remains poorly defined.
Methylmalonic aciduria and homocystinuria, cblC type, is a rare disorder of intracellular vitamin B12 (cobalamin [Cbl]) metabolism caused by mutations in the MMACHC gene. was sequenced from gDNA 118 individuals. Eleven novel were identified, as well 23 that observed previously. Six sequence variants capture haplotype diversity individuals across interval. Genotype–phenotype correlations common apparent; with c.394C>T tend to present late-onset disease whereas patients c.331C>T c.271dupA...
Vitamin B12 (cobalamin) is an essential cofactor in several metabolic pathways. Intracellular conversion of cobalamin to its two coenzymes, adenosylcobalamin mitochondria and methylcobalamin the cytoplasm, necessary for homeostasis methylmalonic acid homocysteine. Nine defects intracellular metabolism have been defined by means somatic complementation analysis. One these defects, cblD defect, can cause isolated aciduria, homocystinuria, or both. Affected persons present with multisystem...
BACKGROUND Immunohistochemistry (IHC) for mismatch repair protein expression, microsatellite instability (MSI) testing, tumor morphology, and family history were compared to determine which screening strategy is superior in identifying Lynch syndrome (LS) unselected women with newly diagnosed endometrial cancer (EC) who have undergone universal germline mutation testing. METHODS A prospective cohort study was performed that recruited EC. Participants completed a assessment molecular...
To report BRCA1 and BRCA2 (BRCA1/2) variant reassessments reclassifications between 2012 2017 at the Advanced Molecular Diagnostics Laboratory (AMDL) in Toronto, Canada, which provides BRCA1/2 testing for patients Ontario, to compare AMDL classifications with submissions ClinVar.Variants were assessed using a standardized assessment tool based on American College of Medical Genetics Genomics/Association Pathology's guidelines tracked an in-house database. Variants shared through Canadian...
The PROMISE diagnostic algorithm, which uses p53, mismatch repair (MMR) protein immunohistochemistry, and DNA polymerase ε ( POLE ) exonuclease domain mutation testing, is a reliable surrogate of the molecular group in endometrial carcinoma. Its prognostic value has been validated carcinoma ovarian endometrioid Moreover, similar grouping recently documented clear cell Thus, we aimed to explore role these markers carcinoma, another endometriosis-associated malignancy. A total 90 cases were...
Increasing demand for genomic testing coupled with genetics workforce shortages has placed unsustainable pressure on standard models of care. Digital tools can offer improved access, efficiency, and cost savings. We created a patient-facing digital health application to support testing.
Objective De novo variants in cullin‐3 ubiquitin ligase ( CUL3 ) have been strongly associated with neurodevelopmental disorders (NDDs), but no large case series reported so far. Here, we aimed to collect sporadic cases carrying rare , describe the genotype–phenotype correlation, and investigate underlying pathogenic mechanism. Methods Genetic data detailed clinical records were collected via multicenter collaboration. Dysmorphic facial features analyzed using GestaltMatcher. Variant effects...